IthaID: 3271


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 119 CCT>GCT [Pro>Ala] HGVS Name: HBA2:c.358C>G
Hb Name: Hb Arcadia Protein Info: N/A

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTAAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Co-inherited with SEA deletion, red cell indices are consistent with this finding. HPLC findings: appears as shoulder of Hb A peak (Primus Resolution)

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34392
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!

Microattributions

A/AContributor(s)DateComments
1Daniel, Yvonne2017-10-26First report.
2Monteiro, Daniel2017-10-26First report.
Created on 2017-10-26 14:31:13, Last reviewed on 2017-11-15 09:01:02 (Show full history)

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